Familial Hirschsprung Disease
Gene: SOX2EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 18 panels
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked SOX2 as ready: August 3rd 2017. Red review plus no direct evidence for role of SOX2 in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.Created: 3 Aug 2017, 3:04 p.m.
Added 'cnv' tag based on PMID:21712996, which shows CNVs at SOX2 locus that show association with HSCR in combination with other congenital anomalies.Created: 5 Jun 2017, 1:46 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- association with HSCR
- Tags
- OMIM
- 184429
- Clinvar variants
- Variants in SOX2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hypogonadotropic hypogonadism (GMS)
- Clefting
- Ocular coloboma
- Structural eye disease
- Monogenic short stature
- Familial Hirschsprung Disease
- Osteogenesis imperfecta
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Monogenic hearing loss
- DDG2P
- Retinal disorders
- Pituitary hormone deficiency
- Glaucoma (developmental)
- Fetal anomalies
- Anophthalmia or microphthalmia
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for SOX2 was changed to Unknown
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Created
Rebecca Foulger (Genomics England curator)SOX2 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)SOX2 was added to Familial Hirschsprung Diseasepanel. Sources: Literature